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pp028Female, age 22 with a progressive, neuromuscular condition

Date of Report April 10, 2017
The patient was born at 41.5 weeks and immediately had breathing difficulties. She was in the neonatal intensive care unit (NICU) for 5 months and required mechanical ventilation, a tracheostomy, Nissen fundoplication, and a gastrostomy tube (G-tube). The tracheostomy and G-tube were removed at age 4 and 5 years, respectively.
The patient was also born with a high-arched palate and submucosal cleft, split (bifid) uvula, and low muscle tone (hypotonia).
The patient’s symptoms were fairly stable until adolescence when she was diagnosed with a sideways curvature of her spine (scoliosis) and restrictive lung disease. Since then, the weakness in her legs has gotten worse. She currently uses a walker and scooter to get around. She has increased weakness in her arms and has been falling more frequently.
  • Muscle weakness
  • Low muscle tone (muscular hypotonia)
  • Exercise-induced muscle fatigue
  • Muscle fiber disease and death (myopathy and muscle fiber necrosis)
  • Increased muscle tissue (endomysial connective tissue)
  • Waddling walk (gait)
  • High stepping (steppage gait)
  • Fatigue
  • Seizures
  • Sleep apnea (obstructive)
  • Sideways curvature of the spine (scoliosis)
  • Exaggerated inward curve of the spine (hyperlordosis)
  • Reduced function of reflexes (hyporeflexia)
  • Low body weight
  • Short stature
  • Narrow and long face
  • Decreased facial expression
  • Wide nose (prominent nasal bridge)
  • Chronic ear infections (otitis media)
  • Abnormal eardrum (abnormality of the tympanic membrane)
  • Hearing impairment (mild conductive hearing impairment)
  • Slowed speech (dysarthria)
  • Speech articulation difficulties
  • High palate
  • Submucous cleft hard palate
  • Split uvula (bifid uvula)
  • Teeth misalignment (dental malocclusion and anterior open bite)
  • Narrow mouth
  • Recessed lower jaw (retrognathia)
  • Underdeveloped bones in lower jaw (hypoplasia of the maxilla)
  • Long neck
  • Chronic lung disease
  • Excess fluid around the lung (pleural effusion)
  • Breathing difficulties (hypoventilation)
  • Acid reflux (gastroesophageal reflux)
  • Delayed movement of food from stomach to small intestine (gastroparesis)
  • Tissue bulge through the abdominal wall (ventral hernia)
  • Inflammation of the lining of the abdominal wall (peritonitis)
  • Solid or fluid filled pocket on the ovary (ovarian cyst)
  • Poor wound healing
  • Seasonal allergies (allergic rhinitis)
Current Treatments
  • Nasal intermittent positive pressure ventilation- breathing difficulties
Prior Treatments
  • Acetazolamide- myopathy
  • Surgical placement of rods- scoliosis
Previously Considered Diagnoses
  • Chromosomal disorder
  • Metabolic condition
  • Multi-minicore disease
  • Myasthenia gravis
  • Myotonic dystrophy
  • Myotubular myopathy
  • Prader-Willi syndrome
  • Velocardiofacial syndrome
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